Variant report

Variant	rs838735
Chromosome Location	chr2:234324192-234324193
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	NFIC	chr2:234323747-234324334	SK-N-SH	brain:	n/a	chr2:234323756-234323772
2	POLR2A	chr2:234323773-234324246	SK-N-SH	brain:	n/a	n/a
3	YY1	chr2:234323839-234324262	A549	lung:	n/a	n/a
4	SIX5	chr2:234321888-234324518	A549	lung:	n/a	n/a
5	JUND	chr2:234321994-234324377	HCT-116	colon:	n/a	chr2:234322466-234322477 chr2:234324011-234324021 chr2:234322468-234322479 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020 chr2:234322367-234322378
6	SP1	chr2:234323431-234324207	A549	lung:	n/a	n/a
7	JUND	chr2:234323597-234324406	SK-N-SH	brain:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
8	FOSL1	chr2:234323610-234324330	HCT-116	colon:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
9	POLR2A	chr2:234323766-234324200	U87	brain:	n/a	n/a
10	STAT3	chr2:234323698-234324271	MCF10A-Er-Src	breast:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
11	MAX	chr2:234323776-234324266	SK-N-SH	brain:	n/a	chr2:234324011-234324020
12	EP300	chr2:234321524-234324379	A549	lung:	n/a	chr2:234324011-234324020 chr2:234322103-234322117
13	YY1	chr2:234323778-234324291	SK-N-SH	brain:	n/a	n/a
14	EP300	chr2:234323670-234324356	SK-N-SH	brain:	n/a	chr2:234324011-234324020
15	RXRA	chr2:234323757-234324325	SK-N-SH	brain:	n/a	n/a
16	SMC3	chr2:234323838-234324235	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr2:234323472-234324270	MCF10A-Er-Src	breast:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
18	POLR2A	chr2:234323753-234324233	U87	brain:	n/a	n/a
19	NFIC	chr2:234323694-234324303	ECC-1	luminal epithelium:	n/a	chr2:234323756-234323772
20	PBX3	chr2:234323726-234324233	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr2:234323693-234324221	ECC-1	luminal epithelium:	n/a	chr2:234323756-234323772
22	MAX	chr2:234323824-234324209	Hela-S3	cervix:	n/a	chr2:234324011-234324020
23	JUND	chr2:234323718-234324353	SK-N-SH	brain:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
24	MAFK	chr2:234323830-234324216	Hela-S3	cervix:	n/a	chr2:234324010-234324020
25	GATA3	chr2:234323634-234324444	SK-N-SH	brain:	n/a	n/a
26	REST	chr2:234323931-234324203	SK-N-SH	brain:	n/a	chr2:234324064-234324072
27	FOS	chr2:234323775-234324227	MCF10A-Er-Src	breast:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
28	EP300	chr2:234323858-234324232	Hela-S3	cervix:	n/a	chr2:234324011-234324020
29	FOS	chr2:234323828-234324219	MCF10A-Er-Src	breast:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
30	FOSL2	chr2:234323665-234324346	SK-N-SH	brain:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
31	TCF7L2	chr2:234323883-234324221	Hela-S3	cervix:	n/a	chr2:234324012-234324021
32	FOS	chr2:234323773-234324239	MCF10A-Er-Src	breast:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
33	NFIC	chr2:234323634-234324400	SK-N-SH	brain:	n/a	chr2:234323756-234323772
34	FOSL1	chr2:234323635-234324347	HCT-116	colon:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
35	STAT3	chr2:234323777-234324281	MCF10A-Er-Src	breast:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
36	TBP	chr2:234323850-234324216	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr2:234323826-234324433	MCF10A-Er-Src	breast:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
38	STAT1	chr2:234323143-234324464	Hela-S3	cervix:	n/a	chr2:234324035-234324044 chr2:234324036-234324045 chr2:234324034-234324045 chr2:234324036-234324059
39	FOSL2	chr2:234321536-234324442	A549	lung:	n/a	chr2:234322466-234322477 chr2:234324011-234324021 chr2:234322468-234322479 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020 chr2:234322367-234322378
40	SP1	chr2:234323638-234324354	A549	lung:	n/a	n/a
41	JUND	chr2:234323688-234324413	SK-N-SH	brain:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
42	JUND	chr2:234323773-234324247	A549	lung:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
43	JUND	chr2:234323781-234324291	Hela-S3	cervix:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
44	JUND	chr2:234323620-234324394	HCT-116	colon:	n/a	chr2:234324011-234324021 chr2:234324012-234324020 chr2:234324012-234324020 chr2:234324013-234324020
45	EP300	chr2:234323610-234324307	A549	lung:	n/a	chr2:234324011-234324020
46	TCF12	chr2:234321567-234324262	A549	lung:	n/a	chr2:234323747-234323757 chr2:234324007-234324014
47	CEBPB	chr2:234323829-234324210	Hela-S3	cervix:	n/a	n/a
48	TCF12	chr2:234323594-234324395	SK-N-SH	brain:	n/a	chr2:234323747-234323757 chr2:234324007-234324014
49	TFAP2C	chr2:234323767-234324263	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr2:234323697-234324235	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
2	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2054071	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242100	0.84[CHB][hapmap]
rs2924815	0.83[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2971868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3762592	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4663540	0.91[CEU][hapmap]
rs55865137	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6706384	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6723558	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7422272	0.91[CEU][hapmap]
rs838707	0.95[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs838713	0.87[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs838714	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs838715	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs838719	0.86[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs838722	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs838730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs838731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs838732	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs838733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs838735	DGKD	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234317800-234327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:234319200-234326000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234319200-234326400	Weak transcription	Fetal Thymus	thymus
8	chr2:234319200-234326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234319200-234326800	Weak transcription	Thymus	Thymus
10	chr2:234321000-234327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:234321000-234327200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:234321000-234327600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:234321200-234324400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:234321400-234326800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:234321400-234326800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:234321400-234328000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:234321600-234324600	Enhancers	NHEK	skin
18	chr2:234321600-234325800	Enhancers	Stomach Mucosa	stomach
19	chr2:234321600-234328000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:234321800-234324200	Enhancers	Colonic Mucosa	Colon
21	chr2:234321800-234324400	Enhancers	HUVEC	blood vessel
22	chr2:234321800-234324600	Enhancers	HMEC	breast
23	chr2:234321800-234325200	Enhancers	Small Intestine	intestine
24	chr2:234322000-234324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:234322000-234324200	Enhancers	Colon Smooth Muscle	Colon
26	chr2:234322000-234324200	Enhancers	NHDF-Ad	bronchial
27	chr2:234322000-234324400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:234322000-234324400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:234322000-234324400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:234322000-234324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:234322000-234324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:234322000-234324600	Enhancers	NH-A	brain
33	chr2:234322000-234326600	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr2:234322200-234324200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:234322200-234324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:234322200-234324200	Enhancers	Pancreas	Pancrea
37	chr2:234322200-234324200	Enhancers	NHLF	lung
38	chr2:234322200-234324800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:234322200-234324800	Enhancers	Fetal Muscle Leg	muscle
40	chr2:234322200-234325600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:234322200-234325800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:234322200-234326600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:234322200-234326600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:234322200-234327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:234322400-234324400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:234322400-234328800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:234322600-234324200	Genic enhancers	GM12878-XiMat	blood
49	chr2:234322600-234324200	Flanking Active TSS	Hela-S3	cervix
50	chr2:234322600-234325600	Genic enhancers	Primary T cells from cord blood	blood

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