Variant report

Variant	rs7108031
Chromosome Location	chr11:32604973-32604974
allele	G/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	chr11:32604945-32605633	HepG2	liver:	n/a	n/a
2	JUND	chr11:32604969-32605583	K562	blood:	n/a	n/a
3	HCFC1	chr11:32604280-32607288	Hela-S3	cervix:	n/a	n/a
4	SP1	chr11:32604857-32605688	A549	lung:	n/a	chr11:32605302-32605314 chr11:32605303-32605313 chr11:32605302-32605314 chr11:32605302-32605313 chr11:32605303-32605312 chr11:32605304-32605313 chr11:32605303-32605312
5	NFATC1	chr11:32604946-32605495	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:32604953-32605647	U87	brain:	n/a	n/a
7	POLR2A	chr11:32604849-32606463	GM12892	blood:	n/a	n/a
8	TBP	chr11:32604965-32605577	Hela-S3	cervix:	n/a	n/a
9	SIN3AK20	chr11:32604969-32605980	PANC-1	pancreas:	n/a	n/a
10	BHLHE40	chr11:32604966-32605681	HepG2	liver:	n/a	chr11:32605538-32605554 chr11:32605555-32605571
11	GABPA	chr11:32604956-32605693	Hela-S3	cervix:	n/a	n/a
12	PML	chr11:32604836-32605966	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:32604942-32605690	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:32604920-32605597	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:32604891-32605742	K562	blood:	n/a	n/a
16	POLR2A	chr11:32604909-32606114	Hela-S3	cervix:	n/a	n/a
17	YY1	chr11:32604896-32605606	A549	lung:	n/a	n/a
18	POLR2A	chr11:32604886-32605624	K562	blood:	n/a	n/a
19	POLR2A	chr11:32604954-32605931	K562	blood:	n/a	n/a
20	TEAD4	chr11:32604935-32605568	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:32604854-32606743	GM12878	blood:	n/a	n/a
22	BCLAF1	chr11:32604875-32605598	GM12878	blood:	n/a	chr11:32605554-32605567 chr11:32605558-32605571
23	ETS1	chr11:32604921-32605817	K562	blood:	n/a	n/a
24	TEAD4	chr11:32604958-32605849	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:32604770-32605650	K562	blood:	n/a	n/a
26	TCF12	chr11:32604926-32605844	ECC-1	luminal epithelium:	n/a	n/a
27	IRF1	chr11:32604949-32605595	K562	blood:	n/a	chr11:32605370-32605383 chr11:32605300-32605314
28	YY1	chr11:32604825-32605719	GM12892	blood:	n/a	chr11:32605657-32605671
29	POLR2A	chr11:32604875-32605654	HCT-116	colon:	n/a	n/a
30	TBP	chr11:32604922-32605781	K562	blood:	n/a	n/a
31	TEAD4	chr11:32604933-32605511	HCT-116	colon:	n/a	n/a
32	POLR2A	chr11:32604634-32606367	K562	blood:	n/a	n/a
33	POLR2A	chr11:32604964-32605616	GM12891	blood:	n/a	n/a
34	MAX	chr11:32604951-32606364	Hela-S3	cervix:	n/a	n/a
35	YY1	chr11:32604959-32605816	GM12878	blood:	n/a	chr11:32605657-32605671
36	POLR2A	chr11:32604965-32605765	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:32604951-32605793	K562	blood:	n/a	n/a
38	POLR2A	chr11:32604960-32606650	MCF10A-Er-Src	breast:	n/a	n/a
39	GABPA	chr11:32604941-32605921	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:32604751-32605955	SK-N-MC	brain:	n/a	n/a
41	SP1	chr11:32604949-32605512	GM12878	blood:	n/a	chr11:32605302-32605314 chr11:32605303-32605313 chr11:32605302-32605314 chr11:32605302-32605313 chr11:32605303-32605312 chr11:32605304-32605313 chr11:32605303-32605312
42	POLR2A	chr11:32604964-32606469	GM19193	blood:	n/a	n/a
43	TAF1	chr11:32604854-32605885	A549	lung:	n/a	n/a
44	SP1	chr11:32604953-32605479	H1-hESC	embryonic stem cell:	n/a	chr11:32605302-32605314 chr11:32605303-32605313 chr11:32605302-32605314 chr11:32605302-32605313 chr11:32605303-32605312 chr11:32605304-32605313 chr11:32605303-32605312
45	HCFC1	chr11:32604897-32605870	K562	blood:	n/a	n/a
46	HEY1	chr11:32604893-32605638	K562	blood:	n/a	chr11:32605554-32605569
47	POLR2A	chr11:32604905-32605794	Gliobla	brain:	n/a	n/a
48	ELF1	chr11:32604763-32605929	HCT-116	colon:	n/a	chr11:32605334-32605343 chr11:32605414-32605426 chr11:32605333-32605344 chr11:32605331-32605344
49	MAX	chr11:32604800-32605904	HCT-116	colon:	n/a	n/a
50	MAX	chr11:32604887-32605889	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
2	chr11:32604900..32605794-chr15:63796343..63797041,3	HCT-116	colon:
3	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000140455	Chromatin interaction
ENSG00000184937	Chromatin interaction
ENSG00000183242	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10835948	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11031885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031895	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11031896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11031902	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11031911	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs11031953	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs11031974	0.91[ASN][1000 genomes]
rs11031993	0.88[ASN][1000 genomes]
rs12363452	0.86[ASN][1000 genomes]
rs12366254	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12574799	0.88[ASN][1000 genomes]
rs12787879	1.00[CHB][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs12791629	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12796379	0.86[ASN][1000 genomes]
rs12801320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12802087	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1352177	0.86[ASN][1000 genomes]
rs1352178	0.86[ASN][1000 genomes]
rs17251664	0.88[ASN][1000 genomes]
rs17327768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17329869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs201842	0.92[YRI][hapmap]
rs2087085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs33992831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34370631	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34682467	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35733667	0.88[ASN][1000 genomes]
rs4267044	0.97[ASN][1000 genomes]
rs4756174	0.86[ASN][1000 genomes]
rs61889448	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115208	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs7121691	0.86[ASN][1000 genomes]
rs7129747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7130509	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7130754	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs7933005	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7934364	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942369	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7949244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9736074	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7108031	EHF	cis	parietal	SCAN
rs7108031	FSHB	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32603000-32605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:32603600-32605200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:32604200-32605200	Flanking Active TSS	K562	blood
4	chr11:32604600-32605000	Enhancers	Small Intestine	intestine
5	chr11:32604600-32605200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr11:32604600-32605200	Flanking Active TSS	Dnd41	blood
7	chr11:32604600-32606200	Active TSS	Liver	Liver
8	chr11:32604600-32606400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:32604600-32606600	Active TSS	Colonic Mucosa	Colon
10	chr11:32604800-32605000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:32604800-32605000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr11:32604800-32605000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:32604800-32605000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:32604800-32605000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:32604800-32605000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:32604800-32605000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:32604800-32605000	Active TSS	Fetal Kidney	kidney
18	chr11:32604800-32605000	Enhancers	Fetal Thymus	thymus
19	chr11:32604800-32605000	Active TSS	Right Atrium	heart
20	chr11:32604800-32605000	Active TSS	Stomach Mucosa	stomach
21	chr11:32604800-32605000	Flanking Active TSS	HepG2	liver
22	chr11:32604800-32605200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:32604800-32605200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:32604800-32605200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:32604800-32605200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:32604800-32605200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:32604800-32605200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:32604800-32605200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr11:32604800-32605200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr11:32604800-32605200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr11:32604800-32605200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:32604800-32605200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:32604800-32605200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:32604800-32605200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:32604800-32605200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:32604800-32605200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:32604800-32605200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:32604800-32605200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:32604800-32605200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:32604800-32605200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:32604800-32605200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:32604800-32605200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:32604800-32605200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:32604800-32605200	Flanking Active TSS	A549	lung
45	chr11:32604800-32605200	Flanking Active TSS	GM12878-XiMat	blood
46	chr11:32604800-32605200	Flanking Active TSS	Hela-S3	cervix
47	chr11:32604800-32605200	Flanking Active TSS	HMEC	breast
48	chr11:32604800-32605200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:32604800-32605200	Flanking Active TSS	NHEK	skin
50	chr11:32604800-32605200	Flanking Active TSS	Osteobl	bone

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