Variant report

Variant	rs11119836
Chromosome Location	chr1:212210374-212210375
allele	C/G
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	MXI1	chr1:212210359-212210775	Hela-S3	cervix:	n/a	n/a
2	E2F4	chr1:212207802-212211007	MCF10A-Er-Src	breast:	n/a	chr1:212209093-212209101 chr1:212209082-212209090 chr1:212209077-212209092 chr1:212208511-212208518 chr1:212209082-212209090 chr1:212209094-212209101 chr1:212209081-212209091 chr1:212208511-212208518 chr1:212209071-212209080 chr1:212209081-212209092 chr1:212208587-212208596 chr1:212209082-212209093 chr1:212209073-212209082 chr1:212209081-212209089 chr1:212208949-212208958 chr1:212209002-212209011 chr1:212208511-212208518 chr1:212209082-212209089 chr1:212208898-212208907
3	EBF1	chr1:212210252-212210479	GM12878	blood:	n/a	n/a
4	HCFC1	chr1:212207412-212210962	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:212210205-212210681	Hela-S3	cervix:	n/a	n/a
6	SIN3A	chr1:212208028-212210595	H1-hESC	embryonic stem cell:	n/a	chr1:212210126-212210136
7	MXI1	chr1:212207678-212210787	SK-N-SH	brain:	n/a	n/a
8	MYC	chr1:212210251-212210401	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:212208086-212210415	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr1:212207846-212210548	Hela-S3	cervix:	n/a	chr1:212209057-212209066
11	TCF7L2	chr1:212210345-212210563	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
2	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
3	chr1:212198329..212200446-chr1:212208407..212211007,2	MCF-7	breast:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000143493	Chromatin interaction
ENSG00000212187	Chromatin interaction
ENSG00000066027	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10863936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11119843	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12066042	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12070369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12076757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12089230	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1387814	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1387815	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17656163	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17656362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17656453	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17699790	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17700264	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2358333	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884428	0.87[YRI][hapmap]
rs2970595	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4093392	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4394721	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4951561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55806741	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55960291	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56289586	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56292525	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828530	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61828533	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61828539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828543	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61828547	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61830761	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6657728	0.82[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs6666948	0.87[CEU][hapmap]
rs6675660	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66858610	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417805	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519826	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7525895	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547097	0.85[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11119836	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212206800-212210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:212207000-212210400	Active TSS	NHLF	lung
3	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
4	chr1:212207200-212210600	Active TSS	Hela-S3	cervix
5	chr1:212207200-212210600	Active TSS	K562	blood
6	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:212207400-212210400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:212207400-212210400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:212207400-212210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:212207400-212210400	Active TSS	Fetal Intestine Large	intestine
12	chr1:212207400-212210400	Active TSS	HMEC	breast
13	chr1:212207400-212210600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:212207400-212210600	Active TSS	NHEK	skin
15	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:212207400-212210800	Active TSS	A549	lung
17	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:212207600-212210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:212207600-212210400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:212207600-212210400	Active TSS	HSMM	muscle
21	chr1:212207600-212210400	Active TSS	NH-A	brain
22	chr1:212207600-212210600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:212207600-212210600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:212207600-212210600	Active TSS	NHDF-Ad	bronchial
25	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
28	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
29	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:212207600-212211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr1:212207800-212210400	Active TSS	Fetal Muscle Trunk	muscle
33	chr1:212207800-212210600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:212207800-212210600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:212207800-212210600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:212207800-212210600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212207800-212210600	Active TSS	Thymus	Thymus
38	chr1:212207800-212210800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:212207800-212211400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:212208000-212210400	Active TSS	Dnd41	blood
41	chr1:212208000-212210800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:212208200-212210400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:212208200-212210400	Active TSS	Brain Germinal Matrix	brain
44	chr1:212208400-212211200	Active TSS	Fetal Thymus	thymus
45	chr1:212209200-212210400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:212209200-212212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:212209400-212210600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:212209400-212210600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:212209400-212210800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:212209400-212217800	Weak transcription	Small Intestine	intestine

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