Variant report

Variant	rs571694113
Chromosome Location	chr4:3235797-3235798
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	chr4:3235690-3236912	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:3235797-3236804	GM12891	blood:	n/a	n/a
3	BHLHE40	chr4:3235484-3235883	K562	blood:	n/a	n/a
4	CTCF	chr4:3235660-3235810	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr4:3235590-3235844	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr4:3235588-3236085	K562	blood:	n/a	chr4:3235736-3235745
7	POLR2A	chr4:3235754-3236114	GM12892	blood:	n/a	n/a
8	MYC	chr4:3235785-3235857	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:3235783-3237126	GM19193	blood:	n/a	n/a
10	POLR2A	chr4:3235485-3237166	GM12878	blood:	n/a	n/a
11	RAD21	chr4:3235590-3235836	H1-hESC	embryonic stem cell:	n/a	chr4:3235604-3235616
12	CTCF	chr4:3235680-3235830	HEK293	kidney:	n/a	n/a
13	CTCF	chr4:3235740-3235890	HFF	foreskin:	n/a	n/a
14	CTCF	chr4:3235700-3235850	AG09309	skin:	n/a	n/a
15	POLR2A	chr4:3235731-3236256	K562	blood:	n/a	n/a
16	CTCF	chr4:3235680-3235830	BE2_C	brain:	n/a	n/a
17	MXI1	chr4:3235390-3236455	SK-N-SH	brain:	n/a	n/a
18	JUND	chr4:3235517-3235871	K562	blood:	n/a	chr4:3235685-3235693 chr4:3235685-3235693 chr4:3235686-3235693
19	CTCF	chr4:3235680-3235830	HAc	cerebellar:	n/a	n/a
20	CTCF	chr4:3235680-3235830	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr4:3235680-3235830	RPTEC	kidney:	n/a	n/a
22	POLR2A	chr4:3235782-3237081	GM12878	blood:	n/a	n/a
23	CTCF	chr4:3235660-3235810	BE2_C	brain:	n/a	n/a
24	POLR2A	chr4:3234596-3237099	GM12878	blood:	n/a	n/a
25	CTCF	chr4:3235720-3235870	BJ	skin:	n/a	n/a
26	CTCF	chr4:3235680-3235830	HVMF	connective:	n/a	n/a
27	CTCF	chr4:3235680-3235830	HFF-Myc	foreskin:	n/a	n/a
28	POLR2A	chr4:3235010-3237760	GM12892	blood:	n/a	n/a
29	RCOR1	chr4:3235580-3235842	K562	blood:	n/a	n/a
30	POLR2A	chr4:3235730-3236863	GM12892	blood:	n/a	n/a
31	POLR2A	chr4:3235358-3236556	K562	blood:	n/a	n/a
32	CTCF	chr4:3235661-3235828	K562	blood:	n/a	n/a
33	CTCF	chr4:3235660-3235810	AG09319	gingival:	n/a	n/a
34	RAD21	chr4:3235583-3235917	H1-hESC	embryonic stem cell:	n/a	chr4:3235604-3235616
35	CTCF	chr4:3235660-3235810	HepG2	liver:	n/a	n/a
36	CTCF	chr4:3235680-3235830	HCPEpiC	choroid plexus:	n/a	n/a
37	POLR2A	chr4:3235656-3236177	GM12892	blood:	n/a	n/a
38	RAD21	chr4:3235600-3235845	SK-N-SH_RA	brain:	n/a	chr4:3235604-3235616
39	CTCF	chr4:3235720-3235870	AG10803	skin:	n/a	n/a
40	MAZ	chr4:3235575-3235933	K562	blood:	n/a	chr4:3235736-3235745
41	CTCF	chr4:3235660-3235810	AG04450	lung:	n/a	n/a
42	CTCF	chr4:3235595-3235902	K562	blood:	n/a	n/a
43	CTCF	chr4:3235720-3235870	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr4:3235633-3235908	IMR90	lung:	n/a	n/a
45	POLR2A	chr4:3235433-3238268	GM12878	blood:	n/a	n/a
46	RAD21	chr4:3235467-3235898	H1-hESC	embryonic stem cell:	n/a	chr4:3235604-3235616
47	CTCF	chr4:3235720-3235870	SK-N-SH_RA	brain:	n/a	n/a
48	MAX	chr4:3235681-3235881	K562	blood:	n/a	chr4:3235736-3235745
49	CTCF	chr4:3235660-3235810	NB4	blood:	n/a	n/a
50	RAD21	chr4:3235567-3235940	IMR90	lung:	n/a	chr4:3235604-3235616

No.	Distal block	Cell Line	Cell type
1	chr4:3230862..3233203-chr4:3234391..3237131,2	K562	blood:
2	chr4:3232769..3236525-chr4:3484558..3488114,4	MCF-7	breast:
3	chr4:3230258..3233203-chr4:3234240..3237131,3	K562	blood:
4	chr4:3233193..3236137-chr4:3292325..3293850,2	MCF-7	breast:

Variant related genes	Relation type
HTT	TF binding region
ENSG00000175920	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv524211	chr4:3215835-3270488	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470003	chr4:3215835-3275484	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv878457	chr4:3231661-3278517	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
11	esv3322278	chr4:3233604-3236102	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
14	esv3372601	chr4:3235604-3238102	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3172400-3238800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3194000-3237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:3196000-3242600	Strong transcription	Fetal Intestine Small	intestine
6	chr4:3201400-3238400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:3206000-3244600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:3206000-3246400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:3207600-3238600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:3207600-3243600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr4:3207600-3244000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:3207600-3244600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:3207600-3245400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:3207600-3246400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3207800-3243200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:3207800-3243800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:3207800-3244400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr4:3207800-3245400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:3208000-3235800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:3208000-3243600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:3208200-3237400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:3208200-3239200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:3208200-3246400	Strong transcription	Fetal Thymus	thymus
25	chr4:3208400-3244800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:3210000-3244200	Strong transcription	Fetal Intestine Large	intestine
27	chr4:3210000-3245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:3210000-3246600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:3210400-3247000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:3211600-3246400	Strong transcription	Thymus	Thymus
31	chr4:3213400-3242600	Strong transcription	Ovary	ovary
32	chr4:3213400-3243400	Strong transcription	Dnd41	blood
33	chr4:3213400-3245600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:3213600-3238800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:3213600-3245600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr4:3213800-3247600	Strong transcription	Primary T cells from cord blood	blood
37	chr4:3214000-3243400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:3221600-3238800	Weak transcription	Hela-S3	cervix
39	chr4:3222600-3241600	Strong transcription	Adipose Nuclei	Adipose
40	chr4:3223200-3243800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr4:3223400-3247600	Strong transcription	Fetal Brain Female	brain
42	chr4:3224000-3236200	Weak transcription	Psoas Muscle	Psoas
43	chr4:3225200-3240800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:3227000-3238200	Strong transcription	Primary B cells from cord blood	blood
45	chr4:3227200-3239200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:3228800-3237400	Strong transcription	HepG2	liver
47	chr4:3228800-3246600	Strong transcription	Liver	Liver
48	chr4:3229000-3243000	Strong transcription	Placenta	Placenta
49	chr4:3229000-3245400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:3229200-3243000	Strong transcription	Brain Angular Gyrus	brain

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