Variant report

Variant	rs11769150
Chromosome Location	chr7:150785753-150785754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150785323-150786952	U87	brain:	n/a	n/a
2	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
3	MAZ	chr7:150783896-150786994	IMR90	lung:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
4	RUNX3	chr7:150785355-150786789	GM12878	blood:	n/a	chr7:150786634-150786651
5	WRNIP1	chr7:150784641-150786174	GM12878	blood:	n/a	n/a
6	RELA	chr7:150785599-150786333	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
8	GABPA	chr7:150785739-150786413	HL-60	blood:	n/a	n/a
9	POLR2A	chr7:150782684-150787036	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
11	POLR2A	chr7:150784175-150786998	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr7:150784530-150786963	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr7:150783965-150785844	K562	blood:	n/a	chr7:150784860-150784870 chr7:150785730-150785740 chr7:150784708-150784715
14	RUNX3	chr7:150785555-150786873	GM12878	blood:	n/a	chr7:150786634-150786651
15	POLR2A	chr7:150784451-150785753	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:150785329-150786878	U87	brain:	n/a	n/a
17	ZNF263	chr7:150784035-150787204	HEK293-T-REx	kidney:	n/a	chr7:150785819-150785828 chr7:150785070-150785079
18	POLR2A	chr7:150784194-150786955	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr7:150782462-150786051	SK-N-SH	brain:	n/a	chr7:150785724-150785737 chr7:150784603-150784616 chr7:150783569-150783582 chr7:150785103-150785116 chr7:150783644-150783657
20	PML	chr7:150784508-150786469	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150785433-150786248	K562	blood:	n/a	n/a
22	CHD1	chr7:150783491-150787518	IMR90	lung:	n/a	n/a
23	NR2F2	chr7:150783966-150785809	K562	blood:	n/a	n/a
24	MTA3	chr7:150783939-150786708	GM12878	blood:	n/a	n/a
25	MYC	chr7:150785625-150785826	HUVEC	blood vessel:	n/a	chr7:150785730-150785740
26	MYC	chr7:150785659-150785793	MCF10A-Er-Src	breast:	n/a	chr7:150785730-150785740
27	BCLAF1	chr7:150785743-150786289	GM12878	blood:	n/a	chr7:150786161-150786174
28	MXI1	chr7:150783932-150786716	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:176970818..176972344-chr7:150783415..150786147,2	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000128713	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10244332	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs10273337	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs1036061	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1036062	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10952301	0.82[ASN][1000 genomes]
rs10952302	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11766855	0.87[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes]
rs11769922	0.81[EUR][1000 genomes]
rs12703112	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs34104727	0.83[EUR][1000 genomes]
rs34308016	0.86[EUR][1000 genomes]
rs4236428	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4725389	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs4725988	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs4725989	0.82[ASN][1000 genomes]
rs6464129	0.82[ASN][1000 genomes]
rs6957724	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs749320	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
20	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
22	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11769150	ABCB8	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150782600-150786600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150783000-150786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:150784000-150785800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:150784000-150787000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:150784000-150787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:150784000-150787200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150784000-150787400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr7:150784200-150786600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:150784200-150786600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr7:150784200-150787200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr7:150784200-150787400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr7:150784600-150786000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:150784600-150786400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:150784600-150786800	Flanking Active TSS	HMEC	breast
15	chr7:150784600-150786800	Flanking Active TSS	NH-A	brain
16	chr7:150784600-150787000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:150784800-150785800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr7:150784800-150785800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150784800-150785800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:150784800-150785800	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr7:150784800-150785800	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr7:150784800-150785800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:150784800-150785800	Flanking Active TSS	Right Ventricle	heart
24	chr7:150784800-150786000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr7:150784800-150786200	Flanking Active TSS	Fetal Brain Male	brain
26	chr7:150784800-150786200	Flanking Active TSS	Placenta	Placenta
27	chr7:150784800-150786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:150784800-150786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:150784800-150786400	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:150784800-150787000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr7:150784800-150787000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:150784800-150787000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:150784800-150787000	Flanking Active TSS	Osteobl	bone
34	chr7:150784800-150787200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:150784800-150787200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:150784800-150787200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr7:150784800-150787200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr7:150784800-150787200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:150784800-150787200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:150784800-150787200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr7:150784800-150787200	Flanking Active TSS	HUVEC	blood vessel
42	chr7:150784800-150787400	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:150785000-150785800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:150785000-150785800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:150785000-150785800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr7:150785000-150785800	Flanking Active TSS	A549	lung
47	chr7:150785000-150785800	Flanking Active TSS	HSMM	muscle
48	chr7:150785000-150785800	Transcr. at gene 5' and 3'	K562	blood
49	chr7:150785000-150785800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr7:150785000-150786000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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