Variant report

Variant	rs113331226
Chromosome Location	chr7:127672035-127672036
allele	A/C
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	chr7:127671869-127672354	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:127672020-127672170	RPTEC	kidney:	n/a	n/a
3	TAF1	chr7:127671908-127672350	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:127671871-127672349	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr7:127672000-127672150	SK-N-SH_RA	brain:	n/a	n/a
6	TAF1	chr7:127671943-127672310	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:127671829-127672312	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:127671889-127673140	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr7:127671980-127672130	AG04450	lung:	n/a	n/a
10	CTCF	chr7:127671965-127672241	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:127671825-127672254	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:127670357-127673547	SK-N-SH	brain:	n/a	chr7:127670869-127670879 chr7:127671624-127671637
13	CTCF	chr7:127672020-127672170	GM12871	blood:	n/a	n/a
14	POLR2A	chr7:127671964-127672309	SK-N-MC	brain:	n/a	n/a
15	HA-E2F1	chr7:127671914-127672359	MCF-7	breast:	n/a	chr7:127672223-127672232 chr7:127672024-127672034 chr7:127671980-127671987 chr7:127671929-127671938 chr7:127671980-127671987 chr7:127671980-127671987
16	POLR2A	chr7:127671245-127672929	IMR90	lung:	n/a	n/a
17	CTCF	chr7:127671920-127672070	HCM	heart:	n/a	n/a
18	CTCF	chr7:127672024-127672207	GM19238	blood:	n/a	n/a
19	CTCF	chr7:127671920-127672070	GM06990	blood:	n/a	n/a
20	RAD21	chr7:127671862-127672334	IMR90	lung:	n/a	chr7:127672029-127672043
21	CTCF	chr7:127672020-127672170	HCPEpiC	choroid plexus:	n/a	n/a
22	POLR2A	chr7:127671825-127672270	HUVEC	blood vessel:	n/a	n/a
23	SIN3AK20	chr7:127671851-127672360	SK-N-SH	brain:	n/a	n/a
24	RAD21	chr7:127671110-127673234	SK-N-SH	brain:	n/a	chr7:127672029-127672043 chr7:127673144-127673154 chr7:127673142-127673154
25	CTCF	chr7:127671940-127672090	GM12865	blood:	n/a	n/a
26	CTCF	chr7:127671930-127672125	SK-N-SH_RA	brain:	n/a	n/a
27	FOS	chr7:127671997-127672329	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr7:127671856-127672298	SK-N-MC	brain:	n/a	n/a
29	GATA2	chr7:127671988-127672302	SH-SY5Y	brain:	n/a	n/a
30	POU2F2	chr7:127672015-127672340	GM12891	blood:	n/a	n/a
31	CTCF	chr7:127672020-127672170	AG04449	skin:	n/a	n/a
32	CTCF	chr7:127671960-127672110	HVMF	connective:	n/a	n/a
33	CTCF	chr7:127671980-127672130	SAEC	small airway:	n/a	n/a
34	RAD21	chr7:127671865-127672283	SK-N-SH_RA	brain:	n/a	chr7:127672029-127672043
35	CTCF	chr7:127671900-127672323	IMR90	lung:	n/a	n/a
36	POLR2A	chr7:127670486-127673170	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr7:127672027-127672340	U87	brain:	n/a	n/a
38	CTCF	chr7:127671980-127672130	NHEK	skin:	n/a	n/a
39	CTCF	chr7:127671980-127672130	GM12867	blood:	n/a	n/a
40	POLR2A	chr7:127670066-127673321	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:127671940-127672190	WI-38	lung:	n/a	n/a
42	MYC	chr7:127672006-127672323	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr7:127672020-127672170	GM12874	blood:	n/a	n/a
44	CTCF	chr7:127671940-127672090	GM12875	blood:	n/a	n/a
45	RAD21	chr7:127671984-127672101	H1-hESC	embryonic stem cell:	n/a	chr7:127672029-127672043
46	CTCF	chr7:127672020-127672170	HMEC	breast:	n/a	n/a
47	CTCF	chr7:127672002-127672194	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr7:127672000-127672150	HA-sp	spinal cord:	n/a	n/a
49	CCNT2	chr7:127671978-127672310	K562	blood:	n/a	n/a
50	TAF1	chr7:127671913-127672346	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127671143..127673584-chr7:127727975..127729974,2	MCF-7	breast:
2	chr7:127670290..127672426-chr7:127847694..127849550,2	MCF-7	breast:

Variant related genes	Relation type
LRRC4	TF binding region
ENSG00000207705	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3422434	chr7:127670741-127674089	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3331798	chr7:127670766-127673564	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
4	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
5	chr7:127669600-127673200	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:127669600-127718200	Weak transcription	A549	lung
7	chr7:127670000-127673000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:127670000-127673200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:127670200-127673000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:127670400-127673000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:127670400-127673000	Active TSS	Brain Substantia Nigra	brain
12	chr7:127670400-127673200	Active TSS	Fetal Brain Female	brain
13	chr7:127670400-127698800	Weak transcription	Dnd41	blood
14	chr7:127670600-127672200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:127670600-127672200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:127670600-127672200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:127670600-127672200	Active TSS	Fetal Kidney	kidney
18	chr7:127670600-127672600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:127670600-127673000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:127670600-127673200	Active TSS	Brain Anterior Caudate	brain
21	chr7:127670800-127672200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:127670800-127672400	Active TSS	Psoas Muscle	Psoas
23	chr7:127670800-127672600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:127670800-127672600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:127670800-127672600	Active TSS	Right Atrium	heart
26	chr7:127670800-127672800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:127670800-127672800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:127670800-127672800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:127670800-127672800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:127670800-127672800	Active TSS	Primary T cells from cord blood	blood
31	chr7:127670800-127672800	Active TSS	Brain Germinal Matrix	brain
32	chr7:127670800-127672800	Active TSS	Brain Hippocampus Middle	brain
33	chr7:127670800-127672800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:127670800-127673000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr7:127670800-127673000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:127670800-127673000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:127670800-127673200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:127670800-127673200	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:127670800-127673600	Active TSS	Brain Angular Gyrus	brain
40	chr7:127670800-127681400	Weak transcription	HepG2	liver
41	chr7:127671000-127672200	Active TSS	Esophagus	oesophagus
42	chr7:127671000-127672200	Active TSS	GM12878-XiMat	blood
43	chr7:127671000-127672200	Active TSS	NHEK	skin
44	chr7:127671000-127672400	Active TSS	Fetal Brain Male	brain
45	chr7:127671000-127672400	Active TSS	Lung	lung
46	chr7:127671000-127672400	Active TSS	Spleen	Spleen
47	chr7:127671000-127672600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:127671000-127672600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:127671000-127672600	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr7:127671000-127672600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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